Canonical Allele Identifier: CA339987866
Gene: MPL HGNC NCBI

Linked Data

dbSNP Id: rs1253984180
gnomAD v2: 1-43814990-G-A
gnomAD v3: 1-43349319-G-A
gnomAD v4: 1-43349319-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43349319G>A , CM000663.2:g.43349319G>A GRCh38
NC_000001.10:g.43814990G>A , CM000663.1:g.43814990G>A GRCh37
NC_000001.9:g.43587577G>A NCBI36
NG_007525.1:g.16516G>A , LRG_510:g.16516G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372470.9:c.1525G>A MANE Select ENSP00000361548.3:p.Gly509Ser
ENST00000413998.7:c.1504G>A ENSP00000414004.3:p.Gly502Ser
ENST00000638732.1:n.1525G>A
ENST00000643351.1:c.57G>A
ENST00000372470.7:c.1525G>A ENSP00000361548.3:p.Gly509Ser
ENST00000413998.6:c.1525G>A ENSP00000414004.2:p.Gly509Ser
ENST00000612993.1:c.1525G>A ENSP00000480273.1:p.Gly509Ser
NM_005373.2:c.1525G>A , LRG_510t1:c.1525G>A NP_005364.1:p.Gly509Ser
XM_011541478.1:c.1504G>A XP_011539780.1:p.Gly502Ser
XM_017001320.1:c.1696G>A XP_016856809.1:p.Gly566Ser
NM_005373.3:c.1525G>A MANE Select NP_005364.1:p.Gly509Ser